Ask about this productRelated genes to: FAM20C antibody
- Gene:
- FAM20C NIH gene
- Name:
- FAM20C golgi associated secretory pathway kinase
- Previous symbol:
- -
- Synonyms:
- IMAGE:4942737, DKFZp547D065, DMP4, G-CK
- Chromosome:
- 7p22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-09-03
- Date modifiied:
- 2019-01-25
Related products to: FAM20C antibody
Related articles to: FAM20C antibody
- Idiopathic pulmonary fibrosis (IPF) involves aberrant crosstalk between immune cells and mesenchymal compartments. While secreted phosphoproteins are crucial in this process, the upstream kinases regulating their post-translational modifications and biological functions remain poorly understood. Integrating single-cell RNA sequencing and macromolecular interaction analysis, we identified a pro-fibrotic FPR3 macrophage subset. We utilized co-immunoprecipitation and mass spectrometry to map the interaction between the Golgi kinase Fam20C and its substrate Osteopontin (also known as SPP1). To validate the functional requirement of this kinase in vivo, we employed a Fab'-functionalized macromolecular delivery system to specifically silence Fam20C in macrophages. We demonstrate that Fam20C phosphorylates SPP1, a critical modification that facilitates its secretion and subsequent binding to CD44 receptors on lung-resident mesenchymal stem cells (LR-MSCs). This ligand-receptor interaction inhibits the Hippo pathway, driving LR-MSC differentiation into myofibroblasts. Importantly, specific silencing of Fam20C using the targeted siRNA delivery strategy significantly attenuated fibrotic progression and blocked the macrophage-LR-MSC fibrogenic crosstalk in mouse models. This study reveals the Fam20C-SPP1 phosphorylation axis as a critical macromolecular switch in pulmonary fibrosis. Our findings provide mechanistic insights into immune-stromal communication and highlight Fam20C as a viable target for precision intervention. - Source: PubMed
Publication date: 2026/06/26
Hou JiweiChen YongchangChen HanwenFeng ZhijianChen GuanhuaJi Qijian - BACKGROUND: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in the PHEX, FGF23, DMP1, ENPP1, CLCN5, SGK3, SLC9A3R1, SLC34A1 or SLC34A3. OBJECTIVE: To identify the genetic defects in a patient with late-onset hypophosphatemia. SUBJECTS: A 15-year old boy with hypophosphatemic rickets, his unaffected parents and 7 siblings. DESIGN: Patients and their family members were initially analyzed for PHEX and FGF23 mutations by PCR-sequencing analysis. Exome and whole-genome sequencing were subsequently performed to identify causative genetic defects. RESULTS: The patient was normal until the age of 11 years old. He presented with severe rickets, hypophosphatemia with increased renal phosphate wasting, normal serum calcium, 1,25(OH)2D and parathyroid hormone (PTH), and mild elevation of serum FGF23. No mutation was detected in the genes known to cause HR such as PHEX, FGF23, DMP1, ENPP1, CLCN5, SGK3, FAM20C, SLC9A3R1, SLC34A1 or SLC34A3 by exome sequencing. A heterozygous variant c.448 C>T (p.Arg150Cys) in the PTH1R gene was found in the patient, his unaffected father and 5 siblings. The same heterozygous variant was previously reported in human enchondromatosis and caused enchondroma-like lesions in transgenic mice. A large heterozygous deletion of more than 7 Kb in the SGK3 distal promoter was identified in the patient by whole genome sequencing. CONCLUSIONS: SGK3 distal promoter deletion is likely the candidate gene causing the disease. PTH1R Arg150Cys variant may contribute to the disease phenotype. SGK3 promoter deletion should be considered in patients with late-onset genetic hypophosphatemic rickets. - Source: PubMed
Publication date: 2026/03/30
Uçar AhmetAlbader NajlaQattan AmalBinEssa Huda AÖzdemir Ebru MısırlıÖzdemir MustafaZou MinjingAlzahrani Ali SShi Yufei - BACKGROUND: Raine syndrome, RS, (OMIM 259775) is a rare autosomal recessive disorder with prevalence of less than 1:1 000 000, caused by homozygous or compound heterozygous variants in FAM20C gene. A retrospective genetic investigation was performed on DNA extracted from amniotic cell cultures previously used for cytogenetic studies. METHODS : Extracted DNA was used for aCGH (array comparative genomic hybridization) and Sanger sequencing. Parental blood samples were tested for karyotype (GTG – G-banding using trypsin and Giemsa) and molecular karyotype (aCGH). Additionally, paternal sample was tested by NGS (next generation sequencing). RESULTS: We present two fetal cases of Raine syndrome. Both were compound heterozygotes for two FAM20C gene variants: a maternally-inherited copy-number loss encompassing exons 1-3 (arr[GRCh37] 7p22.3(170366_229852)x1) and a paternally-inherited novel frameshift exon 1 variant [NM_020223.4:c.307_308dupTC p.(Ser104ArgfsTer27)]. CONCLUSION: Prenatal phenotype associated with Raine syndrome often includes characteristic pattern of intracranial calcification, osteosclerosis and facial dysmorphism. However, in majority of cases, diagnosis is made postnatally. It is therefore important to report all cases of Raine syndrome for which USS (ultrasound scan) findings are available – this will enable better understanding and detection of RS prenatally. - Source: PubMed
Publication date: 2026/03/27
Lazarczyk EwelinaPilarska-Deltow MariaSowinska-Seidler AnnaRepczynska AnnaDrozniewska MalgorzataJamsheer AleksanderZdrojewska AgataPasinska MagdalenaHaus Olga - The molecular mechanisms causing heritable disorders of hypo- and hyperphosphatemia involving the osteocyte-derived hormone fibroblast growth factor 23 (FGF23) and its co-receptor αKlotho (KL) have sprung new concepts underlying the endocrine control of phosphate and calcium (Ca), as well as the regulation of the active form of vitamin D, 1α,25-dihydroxy vitamin D3 (1,25D). These critical developments have proven important for the understanding and treatment of both rare, Mendelian diseases as well as for important implications for common disorders of blood phosphate excess and dysregulated 1,25D metabolism, such as CKD. The heritable and acquired diseases associated with FGF23 are caused by changes in the levels and proteolytic control of this hormone, revealing novel mechanisms dictating FGF23 synthesis and systemic mineral metabolism. Further, new interactions between FGF23, 1,25D, and PTH on phosphate, Ca, and 1,25D at the molecular and genomic level are emerging particularly in the bone-kidney axis. These disorders will be reviewed herein, including considerations for genetic analyses and therapeutic strategies, recently discovered regulation of critically intertwined signaling that controls endocrine-mediated bone and mineral metabolism, as well as gaps in our current knowledge. - Source: PubMed
Solis EmmanuelWhite Kenneth EMeyer Mark B - The family with sequence similarity (FAM) gene family links pathological mechanisms of male infertility and oncogenesis. This review focuses on five key FAM members (FAM71D, FAM46C, FAM170A, FAM83D, and FAM172A), which were selected based on: clinical relevance (FAM83D as a breast cancer prognostic biomarker, hazard ratio, 1.29, p<0.05; FAM71D homozygous mutation c.440G>A associated with asthenoteratospermia); adequate experimental validation (in vitro assays, in vivo models, and clinical samples-for example, FAM170A knockout mice exhibit male infertility, with reduced transcription observed in patients); and recent impact (≥30 PubMed-indexed studies within 5 years and clearly defined mechanisms). In reproduction, FAM71D maintains sperm motility via calmodulin- plasma membrane Ca2+-ATPase (PMCA)- Ca2+ signaling, FAM46C anchors the sperm head-flagellum junction, and FAM170A regulates chromatin remodeling through ubiquitin- specific protease 7 (USP7)-mediated H2B deubiquitination. In oncology, FAM83D activates mitogen-activated protein kinase kinase/extracellular signal-regulated kinase signaling to drive hepatocellular carcinoma, whereas FAM172A dysregulates p38 mitogen-activated protein kinase in thyroid cancer. Translational advances include FAM83B nanodetection, the Fam20C inhibitor FL-1607 (IC50=2.1 μM), and clustered regularly interspaced short palindromic repeats (CRISPR)-corrected FAM170A. Cross-species functional divergence remains a challenge. FAM genes enable novel diagnostics and targeted therapies for reproductive and oncological care, with near-term clinical applications in personalized assisted reproductive technology and cancer precision medicine. - Source: PubMed
Publication date: 2026/03/11
Zhang PengLu SaiYin JiuLi Hemei